A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.
A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.
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发表时间：
1996-12
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通讯作者：
Yan Ru Su;Mark Rutkowski;Charles A. Klanke;X. Wu;Y. Cui;Raymund Y. K. Pun;V. Carter;M. Reif;Anil G. Menon
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作者：
Yan Ru Su;Mark Rutkowski;Charles A. Klanke;X. Wu;Y. Cui;Raymund Y. K. Pun;V. Carter;M. Reif;Anil G. Menon
阿米洛利敏感性钠通道负责远端肾小管钠重吸收的限速步骤，因此可能在维持钠平衡和血压方面发挥关键作用。在这项研究中，已确定了一种遗传变异，导致氨基酸594（T594 M）的氨基末端的β亚基的阿米洛利敏感的钠通道的苏氨酸甲硫氨酸的变化。该变异存在于6.1%的非洲裔美国人受试者（N = 231）中，但未在高加索人（N = 192）中观察到。与野生型相比，T594 M变异个体的B淋巴细胞的全细胞电压钳显示出相似的基底膜斜率电导，但对cAMP类似物的反应增加。
The amiloride-sensitive sodium channel is responsible for the rate-limiting step of sodium reabsorption in the distal renal tubule, and thus may play a key role in the maintenance of sodium balance and blood pressure. In this study, a genetic variant that results in a change of threonine to methionine at amino acid 594 (T594 M) in the carboxy-terminus of the beta-subunit of the amiloride-sensitive sodium channel has been identified. This variant was present in 6.1% of African-American subjects (N = 231) but was not seen in Caucasians (N = 192). Whole cell voltage clamp of B-lymphocytes from individuals with the T594 M variant showed similar basal membrane slope conductance, compared with the wild-type but increased response to cAMP analog.